Last Updated: 2023-07-07
Author(s): Anzengruber F., Navarini A.
Good hair follicle tumour, which can also occur as part of Brooke syndrome or Brooke-Spiegler syndrome.
Autosomal dominant mutation of the CYLD1 gene, which encodes the cylindromatosis protein.
Trichoepitheliomas: solitary, skin-coloured, shiny, non-scaling, sometimes confluent papules.
Brooke syndrome: symmetrical disseminated skin-coloured papules on the capillitium, face and trunk.
Brooke Spiegler syndromes: multiple trichoepitheliomas with cylindromas and spiradenomas.
- Brooke-Spiegler Syndrome and Phenotypic Variants: An Update. Kazakov DV. Head Neck Pathol. 2016 Jun;10(2):125-30.
- Teli B, Thrishuli PB, Santhosh R, Amar DN, Rajpurohit S. Giant solitary trichoepithelioma. South Asian J Cancer. 2015 Jan-Mar;4(1):41-4
- Nagy N, Farkas K, Kemény L, Széll M. Phenotype-genotype correlations for clinical variants caused by CYLD mutations. Eur J Med Genet. 2015 May;58(5):271-8
- Blake PW, Toro JR. Update of cylindromatosis gene (CYLD) mutations in Brooke-Spiegler syndrome: novel insights into the role of deubiquitination in cell signaling. Hum Mutat. 2009 Jul;30(7):1025-36.